Clinical description Three thlaassemie types of BT have been described minor, intermedia and major; see these terms. Patients with BTI may or may not require occasional transfusions. The marketing authorization for deferiprone, another orally active iron chelator, particularly effective in removing heart iron, is restricted to cases thaassemie which treatment with deferoxamine fails or is contraindicated.

There are two major treatment options for BT. Summary and related texts. Personal information regarding our website’s visitors, including their identity, is confidential.

Two of these chains are identical and are designated the alpha chains. Onset generally occurs from months of age. Prognosis Prognosis depends on the severity of the condition but is generally good, particularly if appropriate treatment is provided.

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Health care resources for this disease Expert centres Diagnostic tests Patient organisations 46 Orphan drug s Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.

When these abnormalities affect the parts of haemoglobin thalasemie the beta chains, the disease is called beta thalassaemia. As per the Law relating to information storage and personal integrity, you have the right to oppose art 26 of that lawaccess art 34 of that law and rectify art 36 of that law your personal data. Check this box if you wish to receive a copy of your message.

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Glossaries and vocabularies Access Translation Bureau glossaries and vocabularies. In rare instances, BT trait is associated with trichothiodystrophy or X-linked thrombocytopenia see these terms. Access to the full text of this article requires a subscription.

Annales de Biologie Clinique

Rare autosomal dominant forms have also been described dominant beta-thalassemia; see this term. Journal page Archives Contents list. Outline Masquer le plan. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.

You can move this window by clicking on the headline. Thalassaemia is caused by abnormalities in the genes units of heredity that control production of haemoglobin. The globin part of Hb [hemoglobin] A has 4 protein sections called polypeptide chains.

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Orphanet: Drepanocytose beta thalassemie Thalassodrepanocytose

Prognosis depends on the severity of the condition but is generally good, particularly if appropriate treatment is provided. Very few pregnancies are reported among such patients. Long-term transfusion of red cell concentrates results in iron overload which hampers the vital prognosis mainly due to cardiac involvement and causes significant morbidity due to endocrinal and hepatic iron deposition.

Homozygous beta-thalassemia is a severe, transfusion dependent anaemia that also causes infertility. All hemoglobin consists of two betq Only comments written in English can be processed.